"Why is Beau, Beau?"

Earlier this month, we spent May 6th through May 8th inpatient at the University of Iowa Children's Hospital for an inpatient video EEG.  For those of you that have experienced these, they don't seem to get any easier as your child gets older.  You're stuck in a 10 x 10 room and tethered to a long cable. This test was necessary as Beau had been having some strange episodes in which his right leg gives out on him and he is unable to use it for approximately 20-30 minutes.  The leg then remains weak for the remainder of the day.  These episodes were becoming more frequent, so Dr. Joshi decided it would be good to get him in to see if they could catch one on video EEG. 

The hook-up was stressful as it always is.  Beau hates being held down for procedures and then you add into it the strong odor of the glue and the loud noise of the air gun.  We had the added annoyance of the EEG manager who decided to cram herself into our small room with Andy, myself and the EEG tech.  She clearly had not even peaked at his chart because she thought he could talk and asked him repeated questions.  Andy and I were busy focusing on Beau so we didn't say anything until Andy got Beau to calm down enough that he wasn't screaming.  It was then that I told her to stop asking him questions, he wasn't going to answer; he's non-verbal! 

Once the hook up was over Beau and I bonded for the next couple days and played lots of Nerf basketball.  I'm sure the technician loved having the basketball hoop hanging near the camera.  That ball came right for that camera several times :)  Luckily there was construction work going on right outside our window so it provided some amazing entertainment for Beau.

On Wednesday the EEG tech informed us she could unhook him from the wall in our room and re-connect him to a unit in the playroom which also had a video camera.  It was there that Beau enjoyed his time with a sweet volunteer who happens to be a nursing student at the college.  She played grocery store with him and got in the playhouse with him which made his morning! 

Dr. Joshi stopped in to speak with me briefly on Wednesday stating that she would keep him one more night and then she wanted to do a spinal tap on him.  She showed me 3 pictures from 3 different inpatient EEG's.  One picture was from the current visit.  When we held it next to his previous EEG's it showed the most improved EEG.  Her comment to me was that because there aren't any structural abnormalities that she knows of near the part of the brain that controls verbal communication, she is trying to determine why Beau can't talk.  To be honest, I accepted long ago that Beau won't ever talk, but I guess it is puzzling her because he EEG is looking so good and the epilepsy is under fairly good control with the 3 medications he is on.  She feels like with that under control, he should be gaining verbally.  She said the spinal tap would indicate if there was any chemical problems in the CSF (cerebrospinal fluid).  Since there isn't a structural problem, her next step was to look at the chemicals in the brain. 

 

 

 

The following day the sedation team got Beau put to sleep and the spinal tap was done.  They removed 6 vials of CSF from the little guy.  We were told it would take 2 weeks to get results back.  Beau woke up a few hours later and they gave him a bunch of Mt. Dew to try to keep him from getting a spinal headache.  This little man normally only drinks water and nothing else because he doesn't really like anything else.  He was so thirsty because he had been NPO for so long that he drank the Mt. Dew.  He was flying off the walls on the way home!  It was just a joy to see him smiling and happy - even if he was highly caffeinated lol!

At the end of last week Dr. Joshi called me with the results and her overall impression.  First off she still doesn't know what the episodes are with the right leg.  She didn't catch one on video while we were there.  He had an episode our first night there but we weren't able to get him to try and walk so she had no video proof of what was happening.  We will now have to catch one on our phone when they happen and send it to her.  According to the doctor, this is the best EEG Beau has ever had.  To us, this explains why he continues to grow in school - it may be small growth but in our world it's huge because it's growth and not regression!  This is when Dr. Joshi said....

"Why is Beau, Beau?"  She is struggling to understand, why, if the EEG is so improved and there are no other structural issues beyond the one we know about, why does he have epilepsy and why can't he talk?  I could tell that she is trying so hard to figure out what we aren't seeing.  She's trying to put this puzzle together and there are pieces missing so we can't see a clear picture and it doesn't allow us to develop a long term plan of care. 

The next step is to see her for a visit next month and she will run a GeneDX panel on Beau.  This will look at Beau's own genetic make-up.  I was tested after his diagnosis for any genetic issues and none were ever found on me.  We went through the testing not only for Beau but to determine if we would ever have more children of our own.  This blood test will look for 50 different genes according to Dr. Joshi.  This may give her an explanation for his epilepsy as well as his inability to speak - although he can speak about 10 words and can vocalize noises, grunts, etc.  This test will take approximately 4 months for results.  Dr. Joshi told me that if nothing shows up on this test she is really stumped.  At that time she wants us to see a neurologist friend of hers that is at the Mayo Clinic in Rochester.  She thinks that maybe a fresh set of eyes and mind, might yield some new ideas on what might be going on with Beau. 

I did ask Dr. Joshi about the possibility of Beau having some form of autism.  In her mind she doesn't feel that he does at all.  She is going to have him re-evaluated at the Center for Disability and Development there on campus.  He was evaluated when he was 2 so we will have him re-evaluated.  Nobody had ever mentioned autism but sometimes he does things that have made me question it but after talking with her that will be taken out of the equation for now. 

Overall, here are my thoughts.  I accepted long ago that my son isn't going to talk.  He says 2 very important words and that is really all that matters - he can say "mama" and he can say "dada".  He can sign numerous other words and he has the most expressive eyes, amazing smile, glorious squeal of joy, beautiful freckles that cover his cheeks and he gives the BEST hugs ever.  Call me a pessimist, but I call myself a realist.  Don't get me wrong, if he starts talking one day I'd love to be proven wrong!  Dr. Joshi's discussion about looking for what else must be going has made me think.

"Why is Beau, Beau?"

If answers can be found that will help us with his plan of care, fabulous!  If no answers are found, it's OK because I realized a long time ago why Beau is Beau.

Beau is Beau because God made him and created him so beautifully and so perfect.  Beau is Beau because God needed a special messenger so that adults and children alike could learn from his uniqueness and charm and become understanding of so many others with differences.  Beau is Beau so that other children like him can benefit from his non-profit.

I will keep everyone posted in the coming months and share any information or results we might receive.